Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit
Van Alstyne, Meaghan, Tattoli, Ivan, Delestrée, Nicolas, Recinos, Yocelyn, Workman, Eileen, Shihabuddin, Lamya S., Zhang, Chaolin, Mentis, George Z., Pellizzoni, Livio
Published in Nature neuroscience (01.07.2021)
Published in Nature neuroscience (01.07.2021)
Get full text
Journal Article
Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis
Kordasiewicz, Holly B., Stanek, Lisa M., Wancewicz, Edward V., Mazur, Curt, McAlonis, Melissa M., Pytel, Kimberly A., Artates, Jonathan W., Weiss, Andreas, Cheng, Seng H., Shihabuddin, Lamya S., Hung, Gene, Bennett, C. Frank, Cleveland, Don W.
Published in Neuron (Cambridge, Mass.) (21.06.2012)
Published in Neuron (Cambridge, Mass.) (21.06.2012)
Get full text
Journal Article
Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models
Sardi, S. Pablo, Viel, Catherine, Clarke, Jennifer, Treleaven, Christopher M., Richards, Amy M., Park, Hyejung, Olszewski, Maureen A., Dodge, James C., Marshall, John, Makino, Elina, Wang, Bing, Sidman, Richard L., Cheng, Seng H., Shihabuddin, Lamya S.
Published in Proceedings of the National Academy of Sciences - PNAS (07.03.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (07.03.2017)
Get full text
Journal Article
iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis
Schöndorf, David C., Aureli, Massimo, McAllister, Fiona E., Hindley, Christopher J., Mayer, Florian, Schmid, Benjamin, Sardi, S. Pablo, Valsecchi, Manuela, Hoffmann, Susanna, Schwarz, Lukas Kristoffer, Hedrich, Ulrike, Berg, Daniela, Shihabuddin, Lamya S., Hu, Jing, Pruszak, Jan, Gygi, Steven P., Sonnino, Sandro, Gasser, Thomas, Deleidi, Michela
Published in Nature communications (06.06.2014)
Published in Nature communications (06.06.2014)
Get full text
Journal Article
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
Passini, Marco A, Bu, Jie, Richards, Amy M, Kinnecom, Cathrine, Sardi, S Pablo, Stanek, Lisa M, Hua, Yimin, Rigo, Frank, Matson, John, Hung, Gene, Kaye, Edward M, Shihabuddin, Lamya S, Krainer, Adrian R, Bennett, C Frank, Cheng, Seng H
Published in Science translational medicine (02.03.2011)
Published in Science translational medicine (02.03.2011)
Get more information
Journal Article
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
Sardi, S. Pablo, Clarke, Jennifer, Viel, Catherine, Chan, Monyrath, Tamsett, Thomas J., Treleaven, Christopher M., Bu, Jie, Sweet, Lindsay, Passini, Marco A., Dodge, James C., Yu, W. Haung, Sidman, Richard L., Cheng, Seng H., Shihabuddin, Lamya S.
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2013)
Get full text
Journal Article
Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis
Dodge, James C, Christopher M. Treleaven, Joshua Pacheco, Samantha Cooper, Channa Bao, Marissa Abraham, Mandy Cromwell, S. Pablo Sardi, Wei-Lien Chuang, Richard L. Sidman, Seng H. Cheng, Lamya S. Shihabuddin
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (30.06.2015)
Get full text
Journal Article
Cerebrospinal fluid proteomics implicates the granin family in Parkinson’s disease
Rotunno, Melissa S., Lane, Monica, Zhang, Wenfei, Wolf, Pavlina, Oliva, Petra, Viel, Catherine, Wills, Anne-Marie, Alcalay, Roy N., Scherzer, Clemens R., Shihabuddin, Lamya S., Zhang, Kate, Sardi, S. Pablo
Published in Scientific reports (12.02.2020)
Published in Scientific reports (12.02.2020)
Get full text
Journal Article
Neutral Lipid Cacostasis Contributes to Disease Pathogenesis in Amyotrophic Lateral Sclerosis
Dodge, James C, Jensen, Elizabeth H, Yu, Jinlong, Sardi, S Pablo, Bialas, Allison R, Taksir, Tatyana V, Bangari, Dinesh S, Shihabuddin, Lamya S
Published in The Journal of neuroscience (18.11.2020)
Published in The Journal of neuroscience (18.11.2020)
Get full text
Journal Article
Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle
Sardi, S Pablo, Cheng, Seng H, Shihabuddin, Lamya S
Published in Progress in neurobiology (01.02.2015)
Published in Progress in neurobiology (01.02.2015)
Get full text
Journal Article
CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
Sardi, S. Pablo, Clarke, Jennifer, Kinnecom, Cathrine, Tamsett, Thomas J., Li, Lingyun, Stanek, Lisa M., Passini, Marco A., Grabowski, Gregory A., Schlossmacher, Michael G., Sidman, Richard L., Cheng, Seng H., Shihabuddin, Lamya S.
Published in Proceedings of the National Academy of Sciences - PNAS (19.07.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (19.07.2011)
Get full text
Journal Article
Extensive Transduction and Enhanced Spread of a Modified AAV2 Capsid in the Non-human Primate CNS
Naidoo, Jerusha, Stanek, Lisa M., Ohno, Kousaku, Trewman, Savanah, Samaranch, Lluis, Hadaczek, Piotr, O’Riordan, Catherine, Sullivan, Jennifer, San Sebastian, Waldy, Bringas, John R., Snieckus, Christopher, Mahmoodi, Amin, Mahmoodi, Amir, Forsayeth, John, Bankiewicz, Krystof S., Shihabuddin, Lamya S.
Published in Molecular therapy (03.10.2018)
Published in Molecular therapy (03.10.2018)
Get full text
Journal Article
Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model
Viel, Catherine, Clarke, Jennifer, Kayatekin, Can, Richards, Amy M., Chiang, Ming Sum R., Park, Hyejung, Wang, Bing, Shihabuddin, Lamya S., Sardi, S. Pablo
Published in Scientific reports (22.10.2021)
Published in Scientific reports (22.10.2021)
Get full text
Journal Article
Metabolic signatures of amyotrophic lateral sclerosis reveal insights into disease pathogenesis
Dodge, James C., Treleaven, Christopher M., Fidler, Jonathan A., Tamsett, Thomas J., Bao, Channa, Searles, Michelle, Taksir, Tatyana V., Misra, Kuma, Sidman, Richard L., Cheng, Seng H., Shihabuddin, Lamya S.
Published in Proceedings of the National Academy of Sciences - PNAS (25.06.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (25.06.2013)
Get full text
Journal Article
Viral delivery of a microRNA to Gba to the mouse central nervous system models neuronopathic Gaucher disease
Jackson, Kasey L., Viel, Catherine, Clarke, Jennifer, Bu, Jie, Chan, Monyrath, Wang, Bing, Shihabuddin, Lamya S., Sardi, S. Pablo
Published in Neurobiology of disease (01.10.2019)
Published in Neurobiology of disease (01.10.2019)
Get full text
Journal Article
Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy
Passini, Marco A, Bu, Jie, Richards, Amy M, Treleaven, Christopher M, Sullivan, Jennifer A, O'Riordan, Catherine R, Scaria, Abraham, Kells, Adrian P, Samaranch, Lluis, San Sebastian, Waldy, Federici, Thais, Fiandaca, Massimo S, Boulis, Nicholas M, Bankiewicz, Krystof S, Shihabuddin, Lamya S, Cheng, Seng H
Published in Human gene therapy (01.07.2014)
Published in Human gene therapy (01.07.2014)
Get more information
Journal Article